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Coffin-Siris syndrome.FG syndrome.The clinical spectrum of the Fraser syndrome: report of three new cases and review.A case of Marshall-Smith or Weaver syndromePelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosisEffect of genetic counselling on the prevalence of Huntington's choreaAn extended family with a dominantly inherited speech disorderIdentical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesThe natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?Central nervous system malformations in Mohr's syndromeAutosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.Genetics of Möbius syndrome.Genetic study of narcoleptic syndrome.Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)Craniofrontonasal dysplasia.A reappraisal of the CHARGE association.Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.Moore-Federman syndrome and acromicric dysplasia: are they the same entity?X linked mental retardation: a family with a separate syndrome?Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.Severe Silver-Russell syndrome.Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)A single maxillary incisor as a manifestation of an ectodermal dysplasia.Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?Distal spinal muscular atrophy with vocal cord paralysisCutis laxa and the Costello syndromeOculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.Pitfalls in counselling: the craniosynostoses.De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomaliesThe Holt-Oram syndromeA familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.Focal dermal hypoplasia (Goltz syndrome).A case of atelosteogenesis.Angelman's syndrome.Dilemmas in counselling: the EEC syndrome.Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.Heterogeneity in dominant anterior segment malformations.
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P50
name
Baraitser M
@en
Baraitser M
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type
label
Baraitser M
@en
Baraitser M
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prefLabel
Baraitser M
@en
Baraitser M
@nl